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Sarcosine dehydrogenase deficiency(SAR)

MedGen UID:
120651
Concept ID:
C0268563
Disease or Syndrome
Synonyms: Hypersarcosinemia; SAR; SAR deficiency; Sarcosin dehydrogenase complex, deficiency of; SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY; Sarcosinemia; SARD DEFICIENCY
SNOMED CT: Sarcosine dehydrogenase deficiency (64852002); Sarcosinuria (64852002); Sarcosinemia (64852002); Hypersarcosinemia (64852002); Deficiency of the sarcosine dehydrogenase complex (64852002); Demethylation defect of N-methylglycine (64852002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SARDH (9q34.2)
 
HPO: HP:0010896
Monarch Initiative: MONDO:0010008
OMIM®: 268900
Orphanet: ORPHA3129

Definition

Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001). [from OMIM]

Clinical features

From HPO
Sarcosine dehydrogenase deficiency
MedGen UID:
120651
Concept ID:
C0268563
Disease or Syndrome
Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSarcosine dehydrogenase deficiency
Follow this link to review classifications for Sarcosine dehydrogenase deficiency in Orphanet.

Conditions with this feature

Sarcosine dehydrogenase deficiency
MedGen UID:
120651
Concept ID:
C0268563
Disease or Syndrome
Sarcosinemia is characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosine (N-methylglycine) is enzymatically formed from dimethylglycine by dimethylglycine dehydrogenase (EC 1.5.99.2) and converted to glycine by sarcosine dehydrogenase (SARDH; 604455; EC 1.5.99.1). Some reports have associated sarcosinemia with mental retardation and neurologic problems, but the disorder is most likely benign and unrelated to significant clinical problems (summary by Scott, 2001).

Recent clinical studies

Diagnosis

Li W, Ouyang Z, Zhang Q, Wang L, Shen Y, Wu X, Gu Y, Shu Y, Yu B, Wu X, Sun Y, Xu Q
Cell Death Dis 2014 Dec 18;5(12):e1581. doi: 10.1038/cddis.2014.538. PMID: 25522275Free PMC Article
Lee SY, Chan KY, Chan AY, Lai CK
Ann Acad Med Singap 2006 Aug;35(8):582-4. PMID: 17006587

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